Canonical Allele Identifier: CA2838572907
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429817dup , CM000663.2:g.68429817dup GRCh38
NC_000001.10:g.68895500dup , CM000663.1:g.68895500dup GRCh37
NC_000001.9:g.68668088dup NCBI36
NG_008472.1:g.25144dup
NG_008472.2:g.25144dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1562dup MANE Select ENSP00000262340.5:p.Asn521LysfsTer?
ENST00000262340.5:c.1562dup ENSP00000262340.5:p.Asn521LysfsTer?
NM_000329.2:c.1562dup NP_000320.1:p.Asn521LysfsTer?
XM_017002027.1:c.1286dup XP_016857516.1:p.Asn429LysfsTer?
NM_000329.3:c.1562dup MANE Select NP_000320.1:p.Asn521LysfsTer?
Search 100 bp 5'
Search 100 bp 3'